Structural highlights
Disease
TNG2_HUMAN Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
TNG2_HUMAN May be involved in lipid homeostasis.[1]
References
- ↑ Lujan AL, Foresti O, Sugden C, Brouwers N, Farre AM, Vignoli A, Azamian M, Turner A, Wojnacki J, Malhotra V. Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism. Elife. 2023 Mar 24;12:e85345. PMID:36961129 doi:10.7554/eLife.85345
